Search Results - (Author, Cooperation:P. Vabres)
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1C. Bertolotto ; F. Lesueur ; S. Giuliano ; T. Strub ; M. de Lichy ; K. Bille ; P. Dessen ; B. d'Hayer ; H. Mohamdi ; A. Remenieras ; E. Maubec ; A. de la Fouchardiere ; V. Molinie ; P. Vabres ; S. Dalle ; N. Poulalhon ; T. Martin-Denavit ; L. Thomas ; P. Andry-Benzaquen ; N. Dupin ; F. Boitier ; A. Rossi ; J. L. Perrot ; B. Labeille ; C. Robert ; B. Escudier ; O. Caron ; L. Brugieres ; S. Saule ; B. Gardie ; S. Gad ; S. Richard ; J. Couturier ; B. T. Teh ; P. Ghiorzo ; L. Pastorino ; S. Puig ; C. Badenas ; H. Olsson ; C. Ingvar ; E. Rouleau ; R. Lidereau ; P. Bahadoran ; P. Vielh ; E. Corda ; H. Blanche ; D. Zelenika ; P. Galan ; V. Chaudru ; G. M. Lenoir ; M. Lathrop ; I. Davidson ; M. F. Avril ; F. Demenais ; R. Ballotti ; B. Bressac-de Paillerets
Nature Publishing Group (NPG)
Published 2015Staff ViewPublication Date: 2015-12-04Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsPublished by: -
2C. Bertolotto ; F. Lesueur ; S. Giuliano ; T. Strub ; M. de Lichy ; K. Bille ; P. Dessen ; B. d'Hayer ; H. Mohamdi ; A. Remenieras ; E. Maubec ; A. de la Fouchardiere ; V. Molinie ; P. Vabres ; S. Dalle ; N. Poulalhon ; T. Martin-Denavit ; L. Thomas ; P. Andry-Benzaquen ; N. Dupin ; F. Boitier ; A. Rossi ; J. L. Perrot ; B. Labeille ; C. Robert ; B. Escudier ; O. Caron ; L. Brugieres ; S. Saule ; B. Gardie ; S. Gad ; S. Richard ; J. Couturier ; B. T. Teh ; P. Ghiorzo ; L. Pastorino ; S. Puig ; C. Badenas ; H. Olsson ; C. Ingvar ; E. Rouleau ; R. Lidereau ; P. Bahadoran ; P. Vielh ; E. Corda ; H. Blanche ; D. Zelenika ; P. Galan ; F. Aubin ; B. Bachollet ; C. Becuwe ; P. Berthet ; Y. J. Bignon ; V. Bonadona ; J. L. Bonafe ; M. N. Bonnet-Dupeyron ; F. Cambazard ; J. Chevrant-Breton ; I. Coupier ; S. Dalac ; L. Demange ; M. d'Incan ; C. Dugast ; L. Faivre ; L. Vincent-Fetita ; M. Gauthier-Villars ; B. Gilbert ; F. Grange ; J. J. Grob ; P. Humbert ; N. Janin ; P. Joly ; D. Kerob ; C. Lasset ; D. Leroux ; J. Levang ; J. M. Limacher ; C. Livideanu ; M. Longy ; A. Lortholary ; D. Stoppa-Lyonnet ; S. Mansard ; L. Mansuy ; K. Marrou ; C. Mateus ; C. Maugard ; N. Meyer ; C. Nogues ; P. Souteyrand ; L. Venat-Bouvet ; H. Zattara ; V. Chaudru ; G. M. Lenoir ; M. Lathrop ; I. Davidson ; M. F. Avril ; F. Demenais ; R. Ballotti ; B. Bressac-de Paillerets
Nature Publishing Group (NPG)
Published 2011Staff ViewPublication Date: 2011-10-21Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Carcinoma, Renal Cell/*genetics ; Cell Movement/genetics ; Gene Frequency ; *Genetic Predisposition to Disease ; *Germ-Line Mutation ; Humans ; Melanoma/*genetics ; Microphthalmia-Associated Transcription Factor/*genetics ; Neoplasm Invasiveness/genetics ; SumoylationPublished by: -
3CORDOLIANI, F. ; VIGNON-PENNAMEN, M.D. ; ASSOUS, M.V. ; VABRES, P. ; DRONNE, P. ; RYBOJAD, M. ; MOREL, P.
Oxford, UK : Blackwell Publishing Ltd
Published 1997Staff ViewISSN: 1365-2133Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: We report the fourth case of Lyme borreliosis in a man infected with human immunodeficiency virus (HIV). The erythema chronicum migrans was persistent, overlapping with meningoradiculitis. Repeated immunofluorescence tests for Borrelia burgdorferi sensu lato remained negative in both sera and cerebrospinal fluid (CSF), the enzyme-linked immunosorbent assay was weakly positive in serum and CSF and a Western blot was positive. The skin infiltrate was composed mostly of T lymphocytes with a CD4/CD8 ratio of 0.5. The course of the disease was favourable after treatment with intravenous ceftriaxone. Further studies are necessary to evaluate whether HIV infection influences, as does syphilis, the course and response to treatment of Lyme borreliosis. Serological tests are insufficiently sensitive and the Western blot assay is necessary to confirm Lyme disease in HIV-positive patients.Type of Medium: Electronic ResourceURL: -
4Youssef, N. ; Vabres, P. ; Buisson, T. ; Brousse, N. ; Fraitag, S.
Oxford, UK : Blackwell Publishing Ltd
Published 1999Staff ViewISSN: 1600-0560Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, characterized by a genetic defect in DNA repair. The consequence is a high incidence of skin cancers on sun-exposed cutaneous surfaces of affected children. First lesions appear in the first years of life: telangiectasia, actinic keratosis and keratoacanthomas. Squamous cell and basal cell carcinomas are the most frequent neoplasms. We report the case of a 6-year-old girl affected with XP, who developed two unusual tumors: an atypical fibroxanthoma and a basosquamous carcinoma. In both tumors, immunohistochemical study showed abnormal accumulation of the p53 protein, suggesting the presence of mutation of the p53 tumor suppressor gene. Such p53 mutations may be ultraviolet (UV)-induced, as they are frequently observed in tumors occuring in XP.Type of Medium: Electronic ResourceURL: -
5Lami, M-C. ; Vabres, P. ; Dreyfus, B. ; Germain, T. ; Guillet, G.
Oxford, UK : Blackwell Science Ltd
Published 2004Staff ViewISSN: 1365-2133Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineType of Medium: Electronic ResourceURL: -
6Boralevi, F. ; Haftek, M. ; Vabres, P. ; Lepreux, S. ; Goizet, C. ; Leaute-Labreze, C. ; Taieb, A.
Oxford, UK : Blackwell Science Ltd
Published 2005Staff ViewISSN: 1365-2133Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: Background Hereditary mucoepithelial dysplasia is a dominantly inherited disease, mainly characterized by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and perineal intertrigo. Since the original report by Witkop, this condition has been considered to be a disorder of desmosome/gap junction formation, but there has been no ex vivo investigation of these components using genetic and immunolabelling techniques.Objectives To perform light and immunoelectron microscopic studies, and partial genetic analysis on five patients in a family and three sporadic cases and to point out similarities of this rare disorder with chronic mucocutaneous candidiasis and other follicular keratosis syndromes, i.e. ichthyosis follicularis–alopecia–photophobia (IFAP), keratitis–ichthyosis–deafness (KID) and Siemens syndromes.Methods Biopsies from the involved oral mucosa and armpit skin of patient 1 were prepared for standard histopathology, electron microscopy and immunocytochemistry. Microsatellite genotyping was performed in three affected family members. Direct sequencing after polymerase chain reaction amplification of the entire coding region was performed.Results A 14-year-old male had recurrent keratitis, widespread keratosis pilaris, perineal intertrigo, hypotrichosis and oral mucosal involvement. A similar phenotype was noted in four members of his family and in three sporadic cases. Histological examination of oral mucosa and skin samples showed a psoriasiform pattern, dyskeratotic features and cytoplasmic vacuoles. Expression of connexins (Cx), desmosomal, adherens junction and cytoskeleton proteins (Cx 26, 32 and 43, desmogleins 1 and 2, plakoglobin, desmoplakins I–II, plakophilin 1, β-catenin, E-cadherin, keratins, β-tubulin, vimentin and actin) was normal. Ultrastructural studies showed a reduced number of desmosomes. Dyskeratotic cells exhibited internalized gap junctions, long filamentous inclusions reactive with antikeratin antibodies, and bundles of perinuclear fibres resembling clear tonofilaments. Genetic analysis in the studied family excluded the desmosomal cadherins in chromosome 18q12 as candidate genes.Conclusions A diagnosis of hereditary mucoepithelial dysplasia should be strongly suggested by the triad of non-scarring alopecia, well-demarcated erythema of oral mucosa and psoriasiform perineal rash, after exclusion of the clinically related follicular keratosis syndromes. Defective expression of cytoskeleton elements and/or a modification of mechanisms regulating junction-cytoskeleton assembly may be primarily responsible for impaired epithelial cohesion.Type of Medium: Electronic ResourceURL: -
7Smahi, Asmae ; Courtois, G. ; Vabres, P. ; Yamaoka, S. ; Heuertz, S. ; Munnich, A. ; Israël, A. ; Heiss, Nina S. ; Klauck, S. M. ; Kioschis, P. ; Wiemann, S. ; Poustka, A. ; Esposito, Teresa ; Bardaro, T. ; Gianfrancesco, F. ; Ciccodicola, A. ; D'Urso, M. ; Woffendin, Hayley ; Jakins, T. ; Donnai, D. ; Stewart, H. ; Aradhya, Swaroop ; Yamagata, T. ; Levy, M. ; Lewis, R. A.
[s.l.] : Macmillian Magazines Ltd.
Published 2000Staff ViewISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system. The ...Type of Medium: Electronic ResourceURL: